Unilateral somatic and intracranial hypoplasia.
We report on clinical and MR findings in a woman with a peculiar disease. She was studied from childhood to adulthood. She showed several anomalies affecting structures of ectodermal and mesodermal origin. Specific defects included right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of the corpus callosum, right micro-ophthalmia and cataract, right breast hypoplasia, right upper and lower extremity hypoplasia, bilateral acral alterations affecting especially the middle phalanges, left hemifacial hypoplasia (probably secondary to the severe contralateral cerebral hemisphere lesion), mental retardation and partial epilepsy. MR disclosed right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of corpus callosum and right micro-ophthalmia. She did not exhibit either orbital cysts or cutaneous abnormalities. The complex symptomatology of unknown origin presented by this patient suggests a new developmental malformation consisting in hypoplasia of a complete hemibody.
Pascual-Castroviejo
I
I
Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain.
Pascual-Pascual
S I
SI
Viaño
J
J
Martínez
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D001940:Breast / Q000002:abnormalities; D002386:Cataract / Q000150:complications; D004828:Epilepsies, Partial / Q000150:complications; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D012886:Skull / Q000002:abnormalities*